ClinVar Miner

List of variants studied for essential tremor by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000796.6(DRD3):c.720G>A (p.Gln240=) rs2251177 0.96495
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) rs6280 0.53929
NM_000796.6(DRD3):c.51A>G (p.Ala17=) rs3732783 0.08464
NM_000796.6(DRD3):c.-333G>A rs36212175 0.06630
NM_000796.6(DRD3):c.-105G>A rs36211802 0.04511
NM_000796.6(DRD3):c.987A>G (p.Gln329=) rs61735073 0.01357
NM_000796.6(DRD3):c.-252C>T rs36211803 0.00180
NM_000796.6(DRD3):c.691T>A (p.Cys231Ser) rs150042478 0.00175
NM_000796.6(DRD3):c.-286A>C rs190248679 0.00035
NM_000796.6(DRD3):c.112G>A (p.Ala38Thr) rs138354054 0.00031
NM_000796.6(DRD3):c.1077C>T (p.His359=) rs3732791 0.00029
NM_000796.6(DRD3):c.-153T>G rs200345655 0.00020
NM_000796.6(DRD3):c.406G>A (p.Val136Ile) rs145218071 0.00006

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